%0 Journal Article
%T Genetic analysis of family constellation for cochlear implant recipients<br>人工耳蜗植入聋儿术前基因检测及家系分析
%A ZHANG Chu-Qin
%A CHEN Bo-Bei
%A HUANG Jia-Yun
%A SUN Dong-Mei
%A CHEN Ying-Ying
%A XIANG Song-Jie
%A GUAN Min-Xin
%A <br>张初琴
%A 陈波蓓
%A 黄加云
%A 孙冬梅
%A 陈迎迎
%A 项松洁
%A 管敏鑫
%J 遗传
%D 2008
%I 
%X Abstract: GJB2, SLC26A4 (PDS) and mitochondrial DNA (mtDNA) have been associated with sensorineural hearing loss. In the present study, the clinical, genetic and molecular analysis of 14 cochlear implant recipients and their parents was studied from April 2006 to September 2007. Of the 14 subjects, 35.7% had gene mutations; 28.6% had homozygous GJB2 235delC mutation, whose parents carried heterozygous GJB2 235delC mutation; and 7.1% had mtDNA A1555G mutation, whose mother carried mtDNA A1555G mutation too. There was no SLC26A4 (PDS) mutation. These results strongly sug-gested that the mutation in GJB2 gene was a major cause of deafness in cochlear implant recipients and the mutation of mtDNA A1555G was another important cause. Genetic test of hot-spots and analysis of family constellation can offer an accurate genetic counseling to deaf family and reduce the incidence of hearing loss.
%K GJB2<br>耳聋
%K 基因
%K 人工耳蜗植入
%K 突变检测
%K GJB2
%K 线粒体DNA
%U http://www.alljournals.cn/get_abstract_url.aspx?pcid=90BA3D13E7F3BC869AC96FB3DA594E3FE34FBF7B8BC0E591&jid=3E23F50E071DF18E21B2F5AEE4F1FA5E&aid=472E4B8E338FC35634B8464AEE4E391F&yid=67289AFF6305E306&vid=340AC2BF8E7AB4FD&iid=708DD6B15D2464E8&sid=1D9D6C66A0E73D63&eid=3FD5B2D1B84CE43E&journal_id=0253-9772&journal_name=遗传&referenced_num=0&reference_num=14